CFAP97[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 148840	GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3	ACSL1, CASP3 +45 more	Copy number gain	See cases	GUncertain significance
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	ANKRD37, CCDC110 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2488940	NM_020827.3(CFAP97):c.1585A>T (p.Thr529Ser)	CFAP97 (T529S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266555	NM_020827.3(CFAP97):c.1582C>T (p.Arg528Cys)	CFAP97 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616166	NM_020827.3(CFAP97):c.1564C>T (p.Pro522Ser)	CFAP97 (P522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266560	NM_020827.3(CFAP97):c.1549C>T (p.His517Tyr)	CFAP97 (H517Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470624	NM_020827.3(CFAP97):c.1535A>G (p.Asp512Gly)	CFAP97 (D512G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655210	NM_020827.3(CFAP97):c.1530G>A (p.Ala510=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382779	NM_020827.3(CFAP97):c.1529C>T (p.Ala510Val)	CFAP97 (A510V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143749	NM_020827.3(CFAP97):c.1523G>C (p.Arg508Pro)	CFAP97 (R508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330013	NM_020827.3(CFAP97):c.1523G>A (p.Arg508Gln)	CFAP97 (R508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789580	NM_020827.3(CFAP97):c.1496C>T (p.Thr499Met)	CFAP97 (T499M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3143748	NM_020827.3(CFAP97):c.1435C>T (p.Arg479Trp)	CFAP97 (R479W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605908	NM_020827.3(CFAP97):c.1409A>G (p.Tyr470Cys)	CFAP97 (Y470C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617812	NM_020827.3(CFAP97):c.1399A>G (p.Asn467Asp)	CFAP97 (N467D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212556	NM_020827.3(CFAP97):c.1372T>G (p.Ser458Ala)	CFAP97 (S458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143747	NM_020827.3(CFAP97):c.1345G>A (p.Val449Met)	CFAP97 (V449M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545782	NM_020827.3(CFAP97):c.1342G>A (p.Ala448Thr)	CFAP97 (A448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266556	NM_020827.3(CFAP97):c.1291G>C (p.Glu431Gln)	CFAP97 (E431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143746	NM_020827.3(CFAP97):c.1241C>T (p.Ser414Leu)	CFAP97 (S414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143745	NM_020827.3(CFAP97):c.1229C>T (p.Thr410Ile)	CFAP97 (T410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252340	NM_020827.3(CFAP97):c.1224A>C (p.Lys408Asn)	CFAP97 (K408N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521173	NM_020827.3(CFAP97):c.1184T>C (p.Leu395Ser)	CFAP97 (L395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787979	NM_020827.3(CFAP97):c.1161C>T (p.Ile387=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780937	NM_020827.3(CFAP97):c.1149G>A (p.Glu383=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2336364	NM_020827.3(CFAP97):c.1143A>C (p.Arg381Ser)	CFAP97 (R381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266563	NM_020827.3(CFAP97):c.1139C>T (p.Thr380Ile)	CFAP97 (T380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312796	NM_020827.3(CFAP97):c.1128C>G (p.Asn376Lys)	CFAP97 (N376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288117	NM_020827.3(CFAP97):c.1094A>G (p.His365Arg)	CFAP97 (H365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347632	NM_020827.3(CFAP97):c.1059T>A (p.Phe353Leu)	CFAP97 (F353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558831	NM_020827.3(CFAP97):c.1022A>G (p.His341Arg)	CFAP97 (H341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266557	NM_020827.3(CFAP97):c.1010A>G (p.Gln337Arg)	CFAP97 (Q337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307055	NM_020827.3(CFAP97):c.998A>G (p.His333Arg)	CFAP97 (H333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266564	NM_020827.3(CFAP97):c.994G>T (p.Asp332Tyr)	CFAP97 (D332Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594382	NM_020827.3(CFAP97):c.994G>C (p.Asp332His)	CFAP97 (D332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266561	NM_020827.3(CFAP97):c.958T>C (p.Ser320Pro)	CFAP97 (S320P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511140	NM_020827.3(CFAP97):c.874T>C (p.Tyr292His)	CFAP97 (Y292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266562	NM_020827.3(CFAP97):c.859G>A (p.Val287Met)	CFAP97 (V287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216314	NM_020827.3(CFAP97):c.793C>T (p.Pro265Ser)	CFAP97 (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266554	NM_020827.3(CFAP97):c.760G>A (p.Asp254Asn)	CFAP97 (D254N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610301	NM_020827.3(CFAP97):c.751A>T (p.Thr251Ser)	CFAP97 (T251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400937	NM_020827.3(CFAP97):c.727C>T (p.His243Tyr)	CFAP97 (H243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359319	NM_020827.3(CFAP97):c.634T>C (p.Ser212Pro)	CFAP97 (S212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143750	NM_020827.3(CFAP97):c.490A>G (p.Lys164Glu)	CFAP97 (K164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203939	NM_020827.3(CFAP97):c.466A>C (p.Thr156Pro)	CFAP97 (T156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613727	NM_020827.3(CFAP97):c.455C>G (p.Ala152Gly)	CFAP97 (A152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729141	NM_020827.3(CFAP97):c.339C>T (p.His113=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402750	NM_020827.3(CFAP97):c.269G>A (p.Ser90Asn)	CFAP97 (S90N)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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